Small cervical cystic hygroma: Is it a well defined sonographic finding?

Abstract

Objective: Recent studies described the presence of small lateral neck cysts (SLNC) among first and early second trimester fetuses. This study summarizes the pre- and postnatal findings of nine fetuses with SLNC. Study Design: Sonographic records and available results of chromosomal analysis of nine fetuses with SLNC were retrospectively evaluated. Results: Diagnosis was established in the late first or early second trimester. The fetal karyotype was abnormal in six (Trisomy 21 in three, Turner syndrome in two and trisomy 18 in one fetus) out of seven fetuses with prenatal invasive testing. Besides the presence of a left ventricular echogenic focus in one case, the SLNC remained isolated in two fetuses during intrauterine follow-up and both of them had trisomy 21. None of the SLNC increased in size as pregnancy progressed. They were also present in fetuses, which had an increased second trimester nuchal fold thickness or nuchal cystic hygroma. In all cases either pregnancy was terminated or intrauterine demise occurred. Conclusions: SLNC may represent transient lymph stasis within the jugular lymph sacs and may be an independent risk factor for aneuploidy, particularly trisomy 21.